syndromic X-linked mental retardation Hough type Disease Ontology Browser

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Disease Ontology Browser

syndromic X-linked mental retardation Hough type (DOID:0080242)
Alliance: disease page
Alt IDs: OMIM:301008
Definition: A syndromic X-linked intellectual disability that is characterized by delayed development, intellectual disability, speech and language delay, and early-onset seizures and that has_material_basis_in hemizygous or heterozygous mutation in the CNKSR2 gene on chromosome Xp22.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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